Home > Gene Browser > CYP3A4

CYP3A4

Synonyms
CP33, CP34, CYP3A, CYP3A3, CYPIIIA3, CYPIIIA4, HLP, NF-25, P450C3, P450PCN1, VDDR3
External resources
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam and erythromycin. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
9
Likely pathogenic
0
VUS
407
Likely benign
437
Benign
691

Patient Phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on CYP3A4 gene are displayed below. The following symptoms were found in patients with a variant in CYP3A4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the genitourinary system
22.2%
Abnormality of blood and blood forming tissues
11.1%
Abnormality of head or neck
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the eye
11.1%
Abnormality of the musculoskeletal system
11.1%
Abnormality of the nervous system
11.1%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the ear
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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